Aliases for ANKH Gene
External Ids for ANKH Gene
Previous Symbols for ANKH Gene
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
GeneCards Summary for ANKH Gene
ANKH (ANKH Inorganic Pyrophosphate Transport Regulator) is a Protein Coding gene. Diseases associated with ANKH include chondrocalcinosis 2 and craniometaphyseal dysplasia. GO annotations related to this gene include inorganic phosphate transmembrane transporter activity and inorganic diphosphate transmembrane transporter activity.
UniProtKB/Swiss-Prot for ANKH Gene
Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter